王坤，医学博士，首都医科大学附属北京天坛医院神经介入中心主治医师。自2018年以来，王坤博士已与DISCO成员合作在Neurology，Journal of Human Genetics等杂志发表4篇文章。
Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular etiology underlying EOS patients could provide valuable information for both clinical management and prenatal screening. In this study, we consecutively recruited a cohort of 447 Chinese patients and another cohort of 13 EOS patients from the United States to test the diagnostic yield and clinical impact of ES.
2019年10月15日，吴南医生在于美国休斯顿举办的美国人类遗传学协会2019年年会上作了题为“Disruption of genes essential for Müllerian duct/Wolffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)”的口头报告。DISCO项目组其他成员，包括赵森博士，王连雷博士、陈泽夫博士和赵恒强博士也在年会上作了海报介绍。
On September 5th, 2019, Dr. Nan Wu was invited to the annual meeting of 2019 International Consortium for Spinal Genetics, Development and Disease (ICSGDD; formerly ICSG and ICVAS), Stockholm, Sweden. He gave a key note lecture entitled “The genetic and molecular aspects of Early Onset Scoliosis (EOS)”. Dr Nan Wu paid a visit to National Genomics Infrastructure (NGI) of Sweden.
On May 28, Dr. Hakon Hakonarson, the director of Center for Applied Genomics and professor of Pediatrics, Children's Hospital of Philadelphia (CHOP), USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture entitled “Integrative Genomics Discoveries and Development at centre for applied genomics at CHOP” at the 44nd PUMCH Academic Salon Series in scholarism auditorium of PUMCH.
Welcome to the meeting of the International Consortium for Spinal Genetics, Development, and Disease (ICSGDD), 5-7 Sepember 2019.
On April 15, Dr. Brendan Lee, the director of Molecular and Human Genetics and director of Center for Skeletal Medicine and Biology, Baylor College of Medicine, Texas, USA，and Dr. Sau Wai Cheung, professor of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH).
On May 17, Dr. Nan Wu was invited to present at the the 11th annual meeting of the Chinese Society for Osteoporosis and Bone and Mineral Research (CSOBMR), Nanchang, China.